Investigating iRHOM2-Associated Transcriptional Changes in Tylosis With Esophageal Cancer.

ABSTRACT:

Background and aims

Survival rates for esophageal squamous cell carcinoma (ESCC) are extremely low due to the late diagnosis of most cases. An understanding of the early molecular processes that lead to ESCC may facilitate opportunities for early diagnosis; however, these remain poorly defined. Tylosis with esophageal cancer (TOC) is a rare syndrome associated with a high lifetime risk of ESCC and germline mutations in RHBDF2, encoding iRhom2. Using TOC as a model of ESCC predisposition, this study aimed to identify early-stage transcriptional changes in ESCC development.

Methods

Esophageal biopsies were obtained from control and TOC individuals, the latter undergoing surveillance endoscopy, and adjacent diagnostic biopsies were graded as having no dysplasia or malign

SUBMITTER: Murtough S 

PROVIDER: S-EPMC11307647 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature